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Journal Abstract Search

255 related items for PubMed ID: 7719340

  • 1. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
    Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M.
    Nat Genet; 1995 Feb; 9(2):141-5. PubMed ID: 7719340
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  • 2. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
    Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S.
    Neurol Sci; 2004 Jul; 25(3):130-7. PubMed ID: 15300460
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  • 3. Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.
    Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M.
    Eur J Med Genet; 2005 Jul; 48(1):21-8. PubMed ID: 15953402
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  • 5. Molecular determinants of heritable vitamin E deficiency.
    Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D.
    Biochemistry; 2004 Apr 13; 43(14):4143-9. PubMed ID: 15065857
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  • 7. First case of ataxia with isolated vitamin E deficiency in the Netherlands.
    Ponten SC, Kwee ML, Wolters ECh, Zijlmans JC.
    Parkinsonism Relat Disord; 2007 Jul 13; 13(5):315-6. PubMed ID: 17049453
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  • 9. Alpha-tocopherol transfer protein deficiency in mice causes multi-organ deregulation of gene networks and behavioral deficits with age.
    Gohil K, Godzdanker R, O'Roark E, Schock BC, Kaini RR, Packer L, Cross CE, Traber MG.
    Ann N Y Acad Sci; 2004 Dec 13; 1031():109-26. PubMed ID: 15753139
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  • 13. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.
    Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N.
    N Engl J Med; 1995 Nov 16; 333(20):1313-8. PubMed ID: 7566022
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  • 14. Ataxia with vitamin E deficiency associated with deafness.
    Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H.
    Turk J Pediatr; 2008 Nov 16; 50(5):471-5. PubMed ID: 19102053
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  • 16. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.
    El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F.
    Brain; 2014 Feb 16; 137(Pt 2):402-10. PubMed ID: 24369383
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  • 18. The alpha-tocopherol transfer protein.
    Manor D, Morley S.
    Vitam Horm; 2007 Feb 16; 76():45-65. PubMed ID: 17628171
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  • 19. Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED.
    Christopher Min K.
    Vitam Horm; 2007 Feb 16; 76():23-43. PubMed ID: 17628170
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